Since March 2009

Life Consequences of Having ZERO Out of 50 Genetically Inherited Conditions Tested by 23andMe Genotyping

This post contains appropriately used inappropriate language that may not be suitable for all readers. You have been forewarned. ;-)

23andMe genotyping doesn’t have a lot in terms of summary or guidance on how to handle your 250+ reports it hands to you all at once for initial results. However, what little 23andMe had was a batch of three highlights that I doubt would be the same for everyone, pending their results. So please do not assume this highlight batch would be similar for you should you do your own genotyping with 23andMe.

Among the three highlights of my 250+ genotyping reports was a summary for all 50 Inherited Conditions tested by 23andMe.

Given what I’ve seen of the rest of my report, if it doesn’t look like I might end up without children in life, I’m going to make sure my genes are in a sperm bank, LOL. Unlike most in there which have some profile of the guy donating, looks, career, personality, maybe family history, etc. I will have a decent sized genetic profile that is rather pristine!

OK. Enough of the exhilaration. Take a deep breath.

I still need to explain to you what it all means. The clean bill of health is fantastic news, but it’s not the be all and end all.

What Conditions Are Covered?

The list below are the conditions tested for by 23andme. They have a lot of confidence in the science behind the genetics research for these conditions.

Agenesis of the Corpus Callosum with Peripheral Neuropathy (ACCPN)

Alpha-1 Antitrypsin Deficiency

ARSACS

Autosomal Recessive Polycystic Kidney Disease

Beta Thalassemia

Bloom’s Syndrome

BRCA Cancer Mutations (Selected)

Canavan Disease

Congenital Disorder of Glycosylation Type 1a (PMM2-CDG)

Connexin 26-Related Sensorineural Hearing Loss

Cystic Fibrosis

D-Bifunctional Protein Deficiency

Dihydrolipoamide Dehydrogenase Deficiency

DPD Deficiency

Factor XI Deficiency

Familial Dysautonomia

Familial Hypercholesterolemia Type B

Familial Hyperinsulinism (ABCC8-related)

Familial Mediterranean Fever

Fanconi Anemia (FANCC-related)

G6PD Deficiency

Gaucher Disease

Glycogen Storage Disease Type 1a

Glycogen Storage Disease Type 1b

GRACILE Syndrome

Hemochromatosis (HFE-related)

Hereditary Fructose Intolerance

Hypertrophic Cardiomyopathy (MYBPC3 25bp-deletion)

LAMB3-related Junctional Epidermolysis Bullosa

Leigh Syndrome, French Canadian Type (LSFC)

Limb-girdle Muscular Dystrophy

Maple Syrup Urine Disease Type 1B

Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency

Mucolipidosis IV

Neuronal Ceroid Lipofuscinosis (CLN5-related)

Neuronal Ceroid Lipofuscinosis (PPT1-related)

Niemann-Pick Disease Type A

Nijmegen Breakage Syndrome

Pendred Syndrome

Phenylketonuria

Primary Hyperoxaluria Type 2 (PH2)

Rhizomelic Chondrodysplasia Punctata Type 1 (RCDP1)

Salla Disease

Sickle Cell Anemia & Malaria Resistance

Tay-Sachs Disease

Torsion Dystonia

TTR-Related Cardiac Amyloidosis

TTR-Related Familial Amyloid Polyneuropathy

Tyrosinemia Type I

Zellweger Syndrome Spectrum

Some of these conditions are very rare (1 in 10,000 odds or lower), most are rare (decimal percentages, single digit percentages or lower). I haven’t yet had a chance to look through all the reports to tabulate all the odds, but from what I have seen, I feel pretty safe to say I doubt there is a big percentage who might test negative for all these results.

What Does This NOT Mean?

It does not mean an immunity card to all these conditions. There could be other factors, genetic and/or otherwise, for some of these conditions.

What This Does Mean

These tested factors are rather influential, if not required, in development of these conditions, and I don’t have any of them! That also means I can’t pass on any of them because you can’t pass on what you don’t have!

What Does This Mean in Life?

The lack of genetic disposition for all of these 50 conditions tested for is fantastic news. Unfortunately, it’s not as simple as knowing and forgetting about it all for me. That’s because I am single and would like to find a partner in life should a suitable one comes along. As strongly as I feel about needing to know what genotyping can tell me about myself, and hint at what may be in my future, I am not sure I can make a commitment to someone for the long term future without knowing what can be known. Sure, people have done it for pretty all of time until very recently, and the overwhelming majority today still commit without knowing. However, I am one who believes that in being fully prepared, one must look at every option available. There’s not a lot of things in life bigger than committing the rest of your life to someone else.

It is a romantic notion to play the “love conquers all” card to resolve this dilemma. I still believe it can. However, I also believe it’s easier once you are already in love, and also when you are young like in your teens and 20s. I am in neither situation here. When you are younger, there are less consequences to fall in love “blindly”, shall we say. Your current situations can change easily if you aren’t happy with it, like your education field for a career choice. There is so much potential to still capitalize on easily so it’s easier to hope that differences can be bridged, narrowed or eliminated.

Later, when you are settled into careers and such, it requires more change. Some can be done, like going back to school after 10 or more years out for a drastic career change. Some can’t very easily, if at all, like having children in your life. Either way, it requires a lot more effort and sacrifices as things get settled later in life, even if you’re single and rather independent like I am. There also isn’t as much economic disparity to worry about like two older adults making vastly different salaries, where being together probably means one won’t be able to have the lifestyle s/he was used to financially. Then there is health where you could possibly start seeing significant negative health impacts and/or influences in a person’s life that you’ll have to deal with in becoming a part of their life. That’s also generally a little less likely in your youth.

Relationships, in some ways, is just excess tolerance you afford someone over most other people. If you aged together, it’s easier to accept the impact of someone’s chronic back problems, for example, as part of your life. If you haven’t been together, whether you want to get involved with someone who has chronic back problems that influences their abilities and moods, is a different metric all together. It’s like being asked for sacrifices before you know all the rewards, whereas in a good relationship, you have had and have a good idea what the rewards might be in the future despite the sacrifices to be made.

Now, love is anything but logical. I know and believe in that that more than most things I do in life and the world. However, I’m in the preparation phase here thinking about it, not writing while in love. I might well toss all this out if I meet the right woman. From a rational standpoint currently, I think at some point in that relationship, I would need to have the conversation with a potential life partner about getting her genotyping done and sharing results. I would probably wait until I felt our relationship were strong enough that the results wouldn’t completely change my view of her enough to break it off. It’d be more truly about our future planning rather than a relationship test because by that time, I’d probably know the major factors about her health and family health history, at least in the previous generation, for the health part of the commitment equation not to break things off. I’m too rational to just commit on a whim, any more, I’m afraid, given the great single life I’ve set up for myself. Sure, true love is about making sacrifices for another, but it is also about enhancing each others’ lives. I don’t need to be cold like an economist or a banker to have to come out on the plus side, but I think if you asked the romantics, they’d tell you the idea is to come out so far on the plus side you don’t need to sit and count to be sure!

Now, what if the results were so devastating that I may not want to commit to this woman (or any gender between which love can exist so as not to be sexist or homophobic)? At this point, I don’t know enough to answer other than to say I’d do a lot of thinking and listening to my heart rather than rushing to any decision. It’d be a true test of my love for her, most certainly.

At this time, I’m not even sure what results I might be talking about that could lead to such a scenario. While some diseases tested for are devastating, it’s still only a likelihood. I’ve beaten the odds a lot in my life not to be phased even by high odds, but that’s me. This is someone else. Whatever I contemplate, I can assure you it’d be the most detailed and complex analysis of anything I will ever have done in life, and I do a lot of it, personally and professionally. It won’t be easy, and I’d bet some money it won’t end up being completely rational, either, with all kinds of intangibles that love and feelings will bring into the equation.

I’ll leave it at that because that’s being far too speculative already about an irrational situation hard to imagine accurately. For all I know, she might toss me first after learning I have one of these genotyping assessments and learning of some of my risks, as fantastic as my report might be! She might not know it’s great, just focusing on a few key words that trigger panic signals as I had mentioned in my privacy impact assessment about someone finding my results through my blogging in researching me. She might also just refuse genotyping outright. The way I see genotyping as being a critical part of knowing about one’s health to improve it, like check-ups and blood works, let’s just say if she refuses, there’s probably a better chance we wouldn’t last than if she got bad results.

But as said before, I know love is not rational. You can make far worse bets than me just laughing this all off when the moment comes. :-)